儿童遗传性血管性水肿2家系并文献复习  

Two pediatric hereditary angioedemathe families:case report and literature review

作　　者：夏宇[1] 杨芝 王扬 黄艳艳 杨军[1] Xia Yu;Yang Zhi;Wang Yang;Huang Yanyan;Yang Jun(Department of Rheumatology and Immunology,Shenzhen Children′s Hospital,Shenzhen 518038,China)

机构地区：[1]深圳市儿童医院风湿免疫科,深圳518038

出　　处：《中华儿科杂志》2024年第9期883-887,共5页Chinese Journal of Pediatrics

摘　　要：目的总结儿童遗传性血管性水肿2家系的临床特征。方法回顾性分析2022年12月至2023年5月于深圳市儿童医院风湿免疫科确诊的2个遗传性血管性水肿家系患者的一般情况、临床表现、基因变异和实验室检查结果。并以“儿童”“青少年”“婴儿”“幼儿”“遗传性血管性水肿”“pediatric”“children”“adolescent”“infant”“toddler”和“hereditary angioedema”为关键词检索维普、万方、中国知网、PubMed、Web of Science、Google Scholar自建库至2024年1月相关文献,总结儿童遗传性血管性水肿诊断情况及临床特征。结果先证者1,女,12岁,以间断腹痛8年,加重伴呕吐2 d就诊。8年前无明确诱因出现腹痛,接受2次腹部手术,C1酯酶抑制物浓度0.46 g/L,C1酯酶抑制物功能<0.01,SERPING1基因c.1396C>G变异,确诊遗传性血管性水肿Ⅱ型,其他13名家庭成员中8例存在不同部位肿胀发作情况,2例已死亡。先证者2,女,17岁,因间断肢体肿胀2年余就诊,补体C40.09 g/L,C1酯酶抑制物浓度0.05 g/L,C1酯酶抑制物功能<0.01,SERPING1基因c.882C>G变异,诊断遗传性血管性水肿Ⅰ型。其他12名家庭成员中2例间断皮肤肿胀。文献复习符合检索条件中文文献0篇,英文文献15篇,共包含522例患儿,结合本组2个家系共524例儿童遗传性血管性水肿患者,其中5个家系以儿童为先证者。524例患儿中,263例(50.2%)有家族史调查结果,其中229例(87.1%)家族史阳性。初次发病年龄1~15岁,诊断延误时间-0.9~20.0年。257例(49.0%)患儿明确疾病分型,其中Ⅰ型234例(91.1%)。296例(56.5%)患儿的临床症状有详细描述,其中262例(88.5%)出现不同部位皮肤水肿,176例(59.5%)出现腹痛,61例(20.6%)出现咽喉上呼吸道水肿症状。结论遗传性血管性水肿以发作性皮肤及黏膜肿胀为主要表现,发作部位及特征存在个体化差异。儿童遗传性血管性水肿易被忽视,对于具有阳性家族史发作性皮肤�Objective To summarize the clinical characteristics of two families with hereditary angioedema in children.Methods A retrospective analysis was conducted on the general information,clinical manifestations,genetic variations,and laboratory test results of two families diagnosed with hereditary angioedema at Department of Rheumatology and Immunology,Shenzhen Children′s Hospital from December 2022 to May 2023.And using keywords such as"children""adolescent""infant""toddler""pediatric""hereditary angioedema"search for relevant literature from VIP,Wanfang,CNKI,PubMed,Web of Science and Google Scholar from the establishment of the database until January 2024 and summarize the diagnosis and clinical characteristics of hereditary angioed in children.Results Case 1,female,12 years old,presented with intermittent abdominal pain for 8 years,aggravated with vomiting for 2 days.Eight years ago,without a clear cause,case 1 experienced abdominal pain and underwent two abdominal surgeries.The concentration of C1 esterase inhibitor was 0.46 g/L,and the function of C1 esterase inhibitor was less than 0.01.The SERPING1 gene had a c.1396C>G variation,and she was diagnosed with hereditary angioedema typeⅡ.Among the other 13 family members,8 had swelling in different parts,and 2 had died.Case 2,female,17 years old,was diagnosed with hereditary angioedema typeⅠdue to intermittent limb swelling for more than 2 years.She had C4 of 0.09 g/L,C1 esterase inhibitor concentration of 0.05 g/L,C1 esterase inhibitor function<0.01,SERPING1 gene c.882C>G variation.Two out of the other 12 family members experienced intermittent skin swelling.Literature review meets the search criteria with 0 Chinese literature and 15 English literature,including a total of 524 cases of hereditary angioedema in children.Combined with 2 families in this group,there are 5 families with hereditary angioedema in children as the proband.The onset time is 1-15 years old,and the diagnosis delay time is-0.9 to 20.0 years.Two hundred and sixty-three cases(50.2%)of the

关 键 词：血管性水肿 补体C1抑制蛋白 儿童 诊断 遗传 

分 类 号：R725.9[医药卫生—儿科]